Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
INSR_chr19_7107265_7299414	7124568	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02602.hp1 HG04199.hp1 others(1): Show HG00735.hp2 HG02602.hp1 HG04199.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0029 a0001c0001 a0001c0007 a0001c0029	a0001c0001t0004 a0001c0007t0004 a0001c0007t0120 others(1): Show a0001c0001t0004 a0001c0007t0004 a0001c0007t0120 a0001c0029t0004	a0001c0001t0004g0210 a0001c0007t0004g0194 a0001c0007t0120g0163 others(1): Show a0001c0001t0004g0210 a0001c0007t0004g0194 a0001c0007t0120g0163 a0001c0029t0004g0168	4	293	0.0137	-44	c.325 others(61): Show c.3258+671_3258+714delATATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	17/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7149920	AGAAGGAA others(37): Show AGAAGGAAAAAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0043 a0001c0005t0043	a0001c0005t0043g0054 a0001c0005t0043g0054	1	298	0.0034	-44	c.226 others(61): Show c.2267+533_2267+576delCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTCTTTTTTTCCTTC	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	11/21			chr19	TogoVar
INTU_chr4_127627957_127731737	127640538	GATACATA others(37): Show GATACATATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp1 others(67): Show HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00738.hp1 HG01081.hp2 HG01358.hp1 HG01978.hp2 HG01981.hp2 HG02056.hp1 HG02074.hp1 HG02132.hp2 HG02273.hp2 HG02300.hp1 HG02523.hp1 NA18747.hp1 NA18939.hp1 NA18942.hp2 NA18943.hp1 NA18946.hp2 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18966.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18974.hp1 NA18977.hp1 NA18978.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18994.hp2 NA19000.hp2 NA19001.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19054.hp1 NA19056.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19077.hp2 NA19086.hp2 NA19090.hp2 NA19091.hp2	a0002 a0010 a0002 a0010	a0002c0003 a0010c0017 a0002c0003 a0010c0017	a0002c0003t0003 a0002c0003t0011 a0002c0003t0021 others(12): Show a0002c0003t0003 a0002c0003t0011 a0002c0003t0021 a0002c0003t0030 a0002c0003t0031 a0002c0003t0032 a0002c0003t0033 a0002c0003t0034 a0002c0003t0035 a0002c0003t0036 a0002c0003t0037 a0002c0003t0069 a0002c0003t0070 a0002c0003t0071 a0010c0017t0003	a0002c0003t0003g0008 a0002c0003t0003g0027 a0002c0003t0003g0028 others(57): Show a0002c0003t0003g0008 a0002c0003t0003g0027 a0002c0003t0003g0028 a0002c0003t0003g0029 a0002c0003t0003g0030 a0002c0003t0003g0031 a0002c0003t0003g0032 a0002c0003t0003g0033 a0002c0003t0003g0034 a0002c0003t0003g0036 a0002c0003t0003g0264 a0002c0003t0003g0265 a0002c0003t0003g0267 a0002c0003t0003g0269 a0002c0003t0003g0271 a0002c0003t0003g0272 a0002c0003t0003g0273 a0002c0003t0003g0274 a0002c0003t0003g0275 a0002c0003t0003g0276 a0002c0003t0003g0279 a0002c0003t0003g0283 a0002c0003t0003g0284 a0002c0003t0003g0286 a0002c0003t0003g0287 a0002c0003t0003g0288 a0002c0003t0003g0289 a0002c0003t0003g0290 a0002c0003t0003g0292 a0002c0003t0003g0293 a0002c0003t0003g0294 a0002c0003t0003g0295 a0002c0003t0003g0298 a0002c0003t0003g0299 a0002c0003t0003g0301 a0002c0003t0003g0302 a0002c0003t0003g0303 a0002c0003t0003g0304 a0002c0003t0003g0305 a0002c0003t0003g0308 a0002c0003t0011g0263 a0002c0003t0011g0266 a0002c0003t0011g0270 a0002c0003t0011g0278 a0002c0003t0011g0296 a0002c0003t0011g0297 a0002c0003t0021g0268 a0002c0003t0021g0280 a0002c0003t0030g0307 a0002c0003t0031g0282 a0002c0003t0032g0306 a0002c0003t0033g0277 a0002c0003t0034g0281 a0002c0003t0035g0291 a0002c0003t0036g0309 a0002c0003t0037g0027 a0002c0003t0069g0300 a0002c0003t0070g0035 a0002c0003t0071g0035 a0010c0017t0003g0285	70	344	0.2035	-44	c.147 others(61): Show c.147-2979_147-2936delCATATATATATATATATATATATATATA TATATATATATATATA	INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
IPO11_chr5_62407763_62633582	62513692	GCCCCCCA others(37): Show GCCCCCCACCCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGAC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0166 a0001c0002t0003g0166	1	328	0.0030	-44	c.178 others(63): Show c.1783-1691_1783-1648delCCACCCCCGGACGGGGCGGCTGGCCG GGTGGGGGGCTGACCCCC	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	19/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQCA1_chr2_236319151_236512476	236379323	AAGGGGAG others(37): Show AAGGGGAGGGAACCCCCAAACAGGGGAGCGACAGGACCAAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02080.hp1 HG02451.hp2 others(25): Show HG00609.hp2 HG02080.hp1 HG02451.hp2 HG02615.hp2 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp2 NA18940.hp1 NA18943.hp2 NA18951.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18974.hp2 NA18978.hp2 NA18983.hp1 NA18984.hp2 NA18988.hp2 NA18993.hp2 NA19002.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp2 NA19070.hp2 NA19077.hp1 NA19079.hp2 NA19086.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0001 a0001c0005 a0002c0008 others(3): Show a0001c0001 a0001c0005 a0002c0008 a0003c0003 a0003c0006 a0011c0020	a0001c0001t0001 a0001c0001t0003 a0001c0005t0002 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0005t0002 a0002c0008t0001 a0003c0003t0001 a0003c0003t0003 a0003c0003t0006 a0003c0006t0001 a0011c0020t0003	a0001c0001t0001g0045 a0001c0001t0001g0165 a0001c0001t0003g0013 others(24): Show a0001c0001t0001g0045 a0001c0001t0001g0165 a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0005t0002g0043 a0002c0008t0001g0001 a0003c0003t0001g0048 a0003c0003t0001g0050 a0003c0003t0001g0052 a0003c0003t0001g0061 a0003c0003t0001g0067 a0003c0003t0001g0069 a0003c0003t0001g0080 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0003g0003 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0009 a0003c0003t0006g0206 a0003c0006t0001g0114 a0003c0006t0001g0115 a0003c0006t0001g0186 a0003c0006t0001g0187 a0011c0020t0003g0006	28	77	0.3636	-44	c.147 others(63): Show c.1478+1202_1478+1245delCTCCCTTGGTCCTGTCGCTCCCCTGT TTGGGGGTTCCCTCCCCT	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	12/18			chr2	TogoVar
IQCG_chr3_197884077_197964991	197904027	TATATATA others(37): Show TATATATACATACATATATATACATACATATATATATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01346.hp1 HG02055.hp2 others(11): Show HG00140.hp2 HG01346.hp1 HG02055.hp2 HG02280.hp1 HG02486.hp1 HG02630.hp1 HG02895.hp2 HG02965.hp2 HG03139.hp1 HG03471.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp2 NA18964.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0009 a0001c0001t0002g0014 a0001c0001t0002g0015 others(11): Show a0001c0001t0002g0009 a0001c0001t0002g0014 a0001c0001t0002g0015 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0067 a0002c0002t0001g0078 a0002c0002t0001g0115	14	276	0.0507	-44	c.963 others(61): Show c.963+8604_963+8647delGTATGTATATATATATATGTATGTATAT ATATGTATGTATATAT	IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding	9/11			chr3	TogoVar
IQCM_chr4_149346709_149820843	149369006	ATACACGT others(37): Show ATACACGTGTATATATATATATATACATGTGTATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	250	0.0040	-44	c.139 others(65): Show c.1391-16984_1391-16941delCATATATATATATACACATGTATA TATATATATATACACGTGTA	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	13/13			chr4	TogoVar
IQGAP1_chr15_90383242_90507239	90422616	ATATATAT others(37): Show ATATATATATGTATATATATATATGTATATGTATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp2 HG02257.hp1 others(5): Show HG00741.hp2 HG01106.hp2 HG02257.hp1 HG02735.hp1 HG03239.hp2 HG03492.hp1 HG03688.hp1 NA20805.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0012 a0001c0001 a0005c0012	a0001c0001t0001 a0005c0012t0015 a0001c0001t0001 a0005c0012t0015	a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0206 others(5): Show a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0005c0012t0015g0105	8	343	0.0233	-44	c.156 others(61): Show c.156-3484_156-3441delGTATATATATATATGTATATGTATATAT ATATATGTATATATAT	IQGAP1	ENSG00000140575.13	transcript	ENST00000268182.10	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr15	TogoVar
IRAG1_chr11_10568095_10698755	10674887	AATATTCC others(37): Show AATATTCCTGAAATAGCCCCAAGTCACATCCTAAGATGGGGGTTC	A A	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0205 a0001c0002t0002g0205	1	276	0.0036	-44	c.67+ others(61): Show c.67+18605_67+18648delGAACCCCCATCTTAGGATGTGACTTGGG GCTATTTCAGGAATAT	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20			chr11	TogoVar
ITGA10_chr1_145886208_145915050	145909491	AATATATA others(37): Show AATATATAATTATGTTATATATTATATGTATATTATATATAATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19240.hp1 HG03130.hp1 NA19240.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0044 a0003c0005t0001g0044	2	284	0.0070	-44	c.52+ others(57): Show c.52+428_52+471delATATTATATATAATATACATATAATATATAAC ATAATTATATAT	ITGA10	ENSG00000143127.13	transcript	ENST00000369304.8	protein_coding	1/29			chr1	TogoVar
ITGA11_chr15_68291532_68437163	68397253	ATAAAATA others(37): Show ATAAAATATTATAAAAATATTAAATTAAAAATTTTAAAATAATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01361.hp1 others(12): Show HG00642.hp1 HG00735.hp2 HG01361.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG02615.hp1 HG02647.hp2 HG02717.hp2 HG02976.hp1 HG03139.hp1 HG03704.hp1 HG04204.hp2 HG06807.hp2 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0023 a0001c0024 a0001c0028 others(9): Show a0001c0023 a0001c0024 a0001c0028 a0001c0041 a0001c0042 a0002c0008 a0002c0022 a0002c0030 a0002c0038 a0002c0039 a0003c0066 a0006c0017	a0001c0023t0001 a0001c0024t0005 a0001c0028t0004 others(10): Show a0001c0023t0001 a0001c0024t0005 a0001c0028t0004 a0001c0041t0001 a0001c0042t0001 a0002c0008t0002 a0002c0022t0002 a0002c0022t0007 a0002c0030t0027 a0002c0038t0007 a0002c0039t0007 a0003c0066t0004 a0006c0017t0001	a0001c0023t0001g0013 a0001c0023t0001g0014 a0001c0024t0005g0141 others(12): Show a0001c0023t0001g0013 a0001c0023t0001g0014 a0001c0024t0005g0141 a0001c0028t0004g0224 a0001c0041t0001g0015 a0001c0042t0001g0094 a0002c0008t0002g0159 a0002c0022t0002g0018 a0002c0022t0007g0108 a0002c0030t0027g0119 a0002c0038t0007g0002 a0002c0039t0007g0175 a0003c0066t0004g0020 a0006c0017t0001g0139 a0006c0017t0001g0140	15	240	0.0625	-44	c.164 others(61): Show c.164+5621_164+5664delATATTATTTTAAAATTTTTAATTTAATA TTTTTATAATATTTTA	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA8_chr10_15508954_15724922	15644433	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0053 a0004c0004t0002g0053	1	64	0.0156	-44	c.120 others(61): Show c.1208-256_1208-213delATATATATATATATATATATATATATAT ATATATATATATATAT	ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	12/29			chr10	TogoVar
ITGAE_chr17_3709628_3806188	3785496	GAGGAAGG others(37): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0290 a0002c0002t0001g0290	1	156	0.0064	-44	c.35- others(59): Show c.35-7880_35-7837delTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCT	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	1/30			chr17	TogoVar
ITGAM_chr16_31254975_31337877	31334653	CTTCCTTC others(37): Show CTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0152 a0001c0005t0004g0152	1	221	0.0045	-44	c.29 others(55): Show c.2947_*2990delTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTT CTTTCTTTCT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		1777		chr16	TogoVar
ITGAM_chr16_31254975_31337877	31334661	CTTCCTTC others(37): Show CTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	185	0.0054	-44	c.29 others(55): Show c.2955_*2998delTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		1785		chr16	TogoVar
ITGAM_chr16_31254975_31337877	31334665	CTTCCTTC others(37): Show CTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp2 NA21309.hp2 HG03486.hp1 HG03486.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0001c0005 a0002c0003	a0001c0005t0004 a0002c0003t0003 a0001c0005t0004 a0002c0003t0003	a0001c0005t0004g0160 a0001c0005t0004g0164 a0002c0003t0003g0109 a0001c0005t0004g0160 a0001c0005t0004g0164 a0002c0003t0003g0109	3	175	0.0171	-44	c.29 others(55): Show c.2959_*3002delTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		1789		chr16	TogoVar
ITGAV_chr2_186585056_186685901	186648981	TACATTTG others(37): Show TACATTTGTGTGTATATATATACACATTTGTGTGTATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(127): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03710.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18942.hp1 NA18944.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18960.hp1 NA18964.hp2 NA18967.hp2 NA18972.hp1 NA18972.hp2 NA18979.hp1 NA18980.hp1 NA18989.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19030.hp1 NA19063.hp1 NA19070.hp1 NA19080.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0018 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0002t0022 a0002c0006t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(122): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0242 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0002g0151 a0001c0001t0002g0234 a0001c0001t0003g0241 a0001c0001t0010g0164 a0001c0001t0010g0282 a0001c0001t0018g0156 a0001c0003t0001g0012 a0001c0003t0001g0288 a0001c0003t0001g0289 a0001c0003t0001g0290 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0002g0128 a0002c0002t0004g0124 a0002c0002t0004g0125 a0002c0002t0004g0126 a0002c0002t0004g0127 a0002c0002t0004g0130 a0002c0002t0004g0131 a0002c0002t0004g0133 a0002c0002t0004g0134 a0002c0002t0004g0135 a0002c0002t0004g0138 a0002c0002t0004g0158 a0002c0002t0004g0227 a0002c0002t0004g0260 a0002c0002t0007g0139 a0002c0002t0007g0140 a0002c0002t0007g0141 a0002c0002t0022g0090 a0002c0006t0001g0292 a0003c0004t0001g0136	130	171	0.7602	-44	c.135 others(61): Show c.1352-833_1352-790delTTTGTGTGTATATATATACACATTTGTG TGTATATATATACACA	ITGAV	ENSG00000138448.13	transcript	ENST00000261023.8	protein_coding	13/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGB3BP_chr1_63435770_63528225	63473925	GGGTCAGC others(37): Show GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01993.hp2 others(1): Show HG01070.hp1 HG01071.hp2 HG01993.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0086 a0001c0001t0001g0002 a0001c0001t0001g0086	4	372	0.0108	-44	c.254 others(61): Show c.254+4795_254+4838delACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACC	ITGB3BP	ENSG00000142856.17	transcript	ENST00000271002.15	protein_coding	4/8			chr1	TogoVar
ITPR2_chr12_26330352_26838194	26802568	GATATAGA others(37): Show GATATAGATATAGATATATCTATATATAGATATAGATATAGATAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(81): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01981.hp1 HG02040.hp1 HG02055.hp1 HG02109.hp2 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02630.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18956.hp2 NA18960.hp2 NA18970.hp1 NA18980.hp1 NA18980.hp2 NA19056.hp1 NA19090.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0012	a0001c0001 a0001c0002 a0001c0003 others(47): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0016 a0001c0020 a0001c0021 a0001c0024 a0001c0025 a0001c0026 a0001c0027 a0001c0028 a0001c0029 a0001c0031 a0001c0034 a0001c0035 a0001c0037 a0001c0042 a0001c0048 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0001c0059 a0001c0060 a0001c0061 a0001c0062 a0001c0064 a0001c0065 a0002c0009 a0002c0010 a0002c0017 a0002c0052 a0003c0038 a0003c0041 a0003c0047 a0004c0014 a0005c0067 a0006c0066 a0007c0036 a0009c0050 a0012c0063	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(74): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0035 a0001c0002t0001 a0001c0002t0006 a0001c0002t0008 a0001c0002t0017 a0001c0002t0029 a0001c0002t0036 a0001c0002t0046 a0001c0003t0033 a0001c0004t0001 a0001c0004t0003 a0001c0004t0011 a0001c0005t0015 a0001c0005t0016 a0001c0006t0003 a0001c0006t0030 a0001c0008t0002 a0001c0008t0037 a0001c0008t0043 a0001c0011t0001 a0001c0011t0002 a0001c0012t0006 a0001c0012t0039 a0001c0013t0002 a0001c0013t0022 a0001c0015t0004 a0001c0015t0044 a0001c0016t0042 a0001c0020t0032 a0001c0021t0002 a0001c0024t0010 a0001c0024t0021 a0001c0025t0024 a0001c0026t0020 a0001c0026t0053 a0001c0027t0055 a0001c0027t0056 a0001c0028t0001 a0001c0028t0010 a0001c0029t0011 a0001c0029t0049 a0001c0031t0009 a0001c0034t0004 a0001c0035t0027 a0001c0037t0009 a0001c0042t0025 a0001c0048t0012 a0001c0054t0023 a0001c0055t0008 a0001c0056t0001 a0001c0057t0002 a0001c0058t0050 a0001c0059t0002 a0001c0060t0002 a0001c0061t0045 a0001c0062t0020 a0001c0064t0008 a0001c0065t0024 a0002c0009t0041 a0002c0010t0007 a0002c0010t0012 a0002c0017t0018 a0002c0052t0001 a0003c0038t0009 a0003c0041t0003 a0003c0047t0004 a0004c0014t0013 a0005c0067t0003 a0006c0066t0001 a0007c0036t0015 a0009c0050t0003 a0012c0063t0001	a0001c0001t0001g0047 a0001c0001t0001g0072 a0001c0001t0002g0034 others(81): Show a0001c0001t0001g0047 a0001c0001t0001g0072 a0001c0001t0002g0034 a0001c0001t0003g0035 a0001c0001t0003g0071 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0007g0053 a0001c0001t0010g0129 a0001c0001t0035g0060 a0001c0002t0001g0078 a0001c0002t0006g0028 a0001c0002t0008g0036 a0001c0002t0017g0077 a0001c0002t0029g0079 a0001c0002t0036g0024 a0001c0002t0046g0125 a0001c0003t0033g0088 a0001c0004t0001g0004 a0001c0004t0003g0100 a0001c0004t0011g0130 a0001c0005t0015g0058 a0001c0005t0016g0012 a0001c0006t0003g0055 a0001c0006t0030g0017 a0001c0008t0002g0039 a0001c0008t0037g0018 a0001c0008t0043g0111 a0001c0011t0001g0021 a0001c0011t0002g0040 a0001c0012t0006g0087 a0001c0012t0039g0086 a0001c0013t0002g0007 a0001c0013t0022g0122 a0001c0013t0022g0131 a0001c0015t0004g0032 a0001c0015t0044g0106 a0001c0016t0042g0107 a0001c0020t0032g0069 a0001c0021t0002g0050 a0001c0024t0010g0126 a0001c0024t0021g0124 a0001c0025t0024g0139 a0001c0026t0020g0115 a0001c0026t0053g0142 a0001c0027t0055g0137 a0001c0027t0056g0138 a0001c0028t0001g0023 a0001c0028t0010g0127 a0001c0029t0011g0132 a0001c0029t0049g0123 a0001c0031t0009g0003 a0001c0034t0004g0057 a0001c0035t0027g0013 a0001c0037t0009g0059 a0001c0042t0025g0001 a0001c0048t0012g0091 a0001c0054t0023g0136 a0001c0055t0008g0066 a0001c0056t0001g0029 a0001c0057t0002g0061 a0001c0058t0050g0118 a0001c0059t0002g0097 a0001c0060t0002g0076 a0001c0061t0045g0116 a0001c0062t0020g0128 a0001c0064t0008g0011 a0001c0065t0024g0141 a0002c0009t0041g0110 a0002c0010t0007g0090 a0002c0010t0012g0026 a0002c0017t0018g0108 a0002c0017t0018g0109 a0002c0052t0001g0080 a0003c0038t0009g0025 a0003c0041t0003g0098 a0003c0047t0004g0083 a0004c0014t0013g0033 a0004c0014t0013g0085 a0005c0067t0003g0037 a0006c0066t0001g0062 a0007c0036t0015g0101 a0009c0050t0003g0030 a0012c0063t0001g0094	84	140	0.6000	-44	c.93- others(61): Show c.93-12385_93-12342delATATCTATATCTATATCTATATATAGAT ATATCTATATCTATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	1/56			chr12	TogoVar
IVD_chr15_40400795_40426308	40426264	GCGGTGGC others(37): Show GCGGTGGCTTATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0103 a0001c0001t0028g0103	1	376	0.0027	-44	c.80 others(55): Show c.8002_*8045delCGGTGGCTTATACCTGTAATCCCAGCACTTTGGG AGGCCGAGGC	IVD	ENSG00000128928.10	transcript	ENST00000487418.8	protein_coding		4957		chr15	TogoVar
JAKMIP3_chr10_132060946_132189858	132150777	CGTCCTCC others(37): Show CGTCCTCCACAATTCATTTATCCATCCTCCATAATCCATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG03540.hp1 HG02895.hp1 HG02897.hp2 HG03540.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0006 a0002c0016t0013 a0002c0016t0006 a0002c0016t0013	a0002c0016t0006g0099 a0002c0016t0013g0144 a0002c0016t0013g0145 a0002c0016t0006g0099 a0002c0016t0013g0144 a0002c0016t0013g0145	3	156	0.0192	-44	c.200 others(61): Show c.2007+759_2007+802delATCCTCCATAATCCATCTATCTGTCCTC CACAATTCATTTATCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JPH3_chr16_87597508_87703156	87692548	TGGGTCCC others(37): Show TGGGTCCCACTGGCCACAGATGGGCCTGGGATTCTAGCCCACATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00438.hp2 others(56): Show HG00280.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01261.hp2 HG01346.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02080.hp1 HG02129.hp2 HG02132.hp1 HG02486.hp2 HG02602.hp2 HG02630.hp2 HG02683.hp1 HG02886.hp1 HG03017.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18906.hp1 NA18943.hp1 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18986.hp2 NA18993.hp2 NA18997.hp2 NA18998.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19043.hp1 NA19065.hp1 NA19065.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0001c0003 a0001c0004 others(11): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0012 a0001c0017 a0001c0019 a0001c0021 a0001c0027 a0001c0041 a0008c0043	a0001c0002t0006 a0001c0003t0001 a0001c0003t0009 others(16): Show a0001c0002t0006 a0001c0003t0001 a0001c0003t0009 a0001c0003t0016 a0001c0004t0001 a0001c0005t0001 a0001c0005t0011 a0001c0007t0001 a0001c0007t0016 a0001c0008t0001 a0001c0010t0003 a0001c0012t0001 a0001c0017t0001 a0001c0019t0001 a0001c0019t0035 a0001c0021t0001 a0001c0027t0001 a0001c0041t0001 a0008c0043t0001	a0001c0002t0006g0155 a0001c0003t0001g0021 a0001c0003t0001g0052 others(56): Show a0001c0002t0006g0155 a0001c0003t0001g0021 a0001c0003t0001g0052 a0001c0003t0001g0110 a0001c0003t0001g0173 a0001c0003t0001g0233 a0001c0003t0001g0253 a0001c0003t0001g0262 a0001c0003t0001g0281 a0001c0003t0001g0332 a0001c0003t0001g0339 a0001c0003t0001g0343 a0001c0003t0001g0344 a0001c0003t0001g0352 a0001c0003t0001g0359 a0001c0003t0001g0372 a0001c0003t0009g0195 a0001c0003t0016g0199 a0001c0004t0001g0066 a0001c0004t0001g0129 a0001c0004t0001g0218 a0001c0005t0001g0014 a0001c0005t0001g0058 a0001c0005t0001g0060 a0001c0005t0001g0073 a0001c0005t0001g0086 a0001c0005t0001g0115 a0001c0005t0001g0117 a0001c0005t0001g0139 a0001c0005t0001g0177 a0001c0005t0001g0224 a0001c0005t0001g0258 a0001c0005t0001g0274 a0001c0005t0001g0282 a0001c0005t0001g0314 a0001c0005t0001g0319 a0001c0005t0011g0377 a0001c0007t0001g0116 a0001c0007t0001g0213 a0001c0007t0001g0291 a0001c0007t0001g0338 a0001c0007t0016g0198 a0001c0008t0001g0015 a0001c0008t0001g0208 a0001c0008t0001g0354 a0001c0008t0001g0370 a0001c0010t0003g0048 a0001c0012t0001g0065 a0001c0012t0001g0356 a0001c0017t0001g0221 a0001c0017t0001g0222 a0001c0017t0001g0223 a0001c0019t0001g0026 a0001c0019t0035g0099 a0001c0021t0001g0165 a0001c0021t0001g0167 a0001c0027t0001g0070 a0001c0041t0001g0182 a0008c0043t0001g0112	59	378	0.1561	-44	c.216 others(63): Show c.2166+2057_2166+2100delAGCCCACATAGGGTCCCACTGGCCAC AGATGGGCCTGGGATTCT	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JUP_chr17_41749609_41791711	41786622	CGGGCCGG others(37): Show CGGGCCGGGGTGGGAGCCGGCGCGGACAGCGAACTGAGCTCGGCG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0379 a0001c0001t0024g0379	1	410	0.0024	-44	c.-87 others(51): Show c.-87_-44delCGCCGAGCTCAGTTCGCTGTCCGCGCCGGCTCCCACCC CGGCCC	JUP	ENSG00000173801.17	transcript	ENST00000393931.8	protein_coding	1/14	14769		chr17	TogoVar
KALRN_chr3_124028369_124731325	124287770	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00642.hp2 others(52): Show HG00323.hp2 HG00438.hp2 HG00642.hp2 HG00735.hp2 HG01071.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG02055.hp1 HG02071.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02896.hp1 HG02897.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp2 HG03688.hp2 NA18612.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18955.hp1 NA18964.hp1 NA18983.hp2 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19010.hp1 NA19010.hp2 NA19077.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0001c0002 a0001c0003 others(36): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0017 a0001c0019 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0039 a0001c0040 a0001c0041 a0001c0054 a0001c0065 a0001c0068 a0001c0072 a0001c0073 a0001c0074 a0001c0075 a0002c0028 a0002c0076 a0006c0077 a0008c0045	a0001c0001t0003 a0001c0001t0033 a0001c0002t0017 others(42): Show a0001c0001t0003 a0001c0001t0033 a0001c0002t0017 a0001c0003t0001 a0001c0003t0028 a0001c0004t0030 a0001c0005t0001 a0001c0006t0001 a0001c0007t0003 a0001c0008t0004 a0001c0009t0001 a0001c0010t0002 a0001c0011t0001 a0001c0012t0010 a0001c0017t0021 a0001c0019t0001 a0001c0022t0001 a0001c0022t0031 a0001c0023t0007 a0001c0023t0018 a0001c0024t0001 a0001c0024t0027 a0001c0025t0001 a0001c0025t0002 a0001c0031t0003 a0001c0032t0003 a0001c0033t0001 a0001c0034t0001 a0001c0035t0002 a0001c0036t0002 a0001c0037t0005 a0001c0039t0001 a0001c0040t0032 a0001c0041t0012 a0001c0054t0001 a0001c0065t0009 a0001c0068t0013 a0001c0072t0001 a0001c0073t0006 a0001c0074t0002 a0001c0075t0003 a0002c0028t0001 a0002c0076t0001 a0006c0077t0001 a0008c0045t0010	a0001c0001t0003g0010 a0001c0001t0003g0036 a0001c0001t0003g0112 others(52): Show a0001c0001t0003g0010 a0001c0001t0003g0036 a0001c0001t0003g0112 a0001c0001t0033g0033 a0001c0002t0017g0052 a0001c0003t0001g0049 a0001c0003t0028g0081 a0001c0004t0030g0051 a0001c0005t0001g0030 a0001c0005t0001g0041 a0001c0005t0001g0042 a0001c0006t0001g0013 a0001c0007t0003g0104 a0001c0008t0004g0028 a0001c0008t0004g0029 a0001c0009t0001g0064 a0001c0009t0001g0069 a0001c0009t0001g0071 a0001c0010t0002g0012 a0001c0010t0002g0024 a0001c0010t0002g0066 a0001c0011t0001g0017 a0001c0011t0001g0044 a0001c0012t0010g0077 a0001c0017t0021g0089 a0001c0019t0001g0079 a0001c0022t0001g0008 a0001c0022t0031g0060 a0001c0023t0007g0046 a0001c0023t0018g0045 a0001c0024t0001g0050 a0001c0024t0027g0023 a0001c0025t0001g0048 a0001c0025t0002g0034 a0001c0031t0003g0019 a0001c0032t0003g0090 a0001c0033t0001g0040 a0001c0034t0001g0037 a0001c0035t0002g0065 a0001c0036t0002g0054 a0001c0037t0005g0058 a0001c0039t0001g0091 a0001c0040t0032g0100 a0001c0041t0012g0105 a0001c0054t0001g0057 a0001c0065t0009g0093 a0001c0068t0013g0062 a0001c0072t0001g0061 a0001c0073t0006g0096 a0001c0074t0002g0021 a0001c0075t0003g0031 a0002c0028t0001g0043 a0002c0076t0001g0067 a0006c0077t0001g0059 a0008c0045t0010g0076	55	61	0.9016	-44	c.970 others(63): Show c.970-11008_970-10965delATATATATATATATATATATATATAT ATATATATATATATATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	5/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KANK4_chr1_62231165_62324434	62278320	TCTTCCTT others(37): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0012 a0011c0021t0012	a0011c0021t0012g0156 a0011c0021t0012g0156	1	261	0.0038	-44	c.16+ others(59): Show c.16+3185_16+3228delGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAG	KANK4	ENSG00000132854.19	transcript	ENST00000371153.9	protein_coding	2/9			chr1	TogoVar
KANSL1_chr17_46024916_46198429	46084112	CTCACACC others(37): Show CTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTGGA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01074.hp2 others(19): Show HG00140.hp1 HG00280.hp1 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01255.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01952.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02602.hp2 HG02735.hp2 HG02738.hp2 HG03239.hp1 HG03704.hp1 HG04199.hp1 NA19085.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0024 a0003c0004t0025 a0003c0004t0005 a0003c0004t0024 a0003c0004t0025	a0003c0004t0005g0301 a0003c0004t0005g0302 a0003c0004t0005g0303 others(19): Show a0003c0004t0005g0301 a0003c0004t0005g0302 a0003c0004t0005g0303 a0003c0004t0005g0304 a0003c0004t0005g0305 a0003c0004t0005g0306 a0003c0004t0005g0307 a0003c0004t0005g0308 a0003c0004t0005g0309 a0003c0004t0005g0310 a0003c0004t0005g0311 a0003c0004t0005g0312 a0003c0004t0005g0313 a0003c0004t0005g0314 a0003c0004t0005g0315 a0003c0004t0005g0316 a0003c0004t0005g0317 a0003c0004t0005g0318 a0003c0004t0005g0319 a0003c0004t0005g0320 a0003c0004t0024g0300 a0003c0004t0025g0321	22	320	0.0688	-44	c.143 others(63): Show c.1432-1614_1432-1571delTCCACCCGCCTCAGCTTCCCAAAGTG CTGGGATTACAGGTGTGA	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	3/14			chr17	TogoVar
KASH5_chr19_49383249_49422990	49389832	CTGCTGCA others(37): Show CTGCTGCAGGGACTGCCCAGAGCAGCTGCAAGTGGGGCTGGCAGG	C C	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	352	0.0028	-44	c.-95 others(59): Show c.-95-956_-95-913delTGCTGCAGGGACTGCCCAGAGCAGCTGCAA GTGGGGCTGGCAGG	KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding	1/19			chr19	TogoVar
KAT2B_chr3_20035446_20159404	20080431	AATAAAGG others(37): Show AATAAAGGCCTTCTTAGAGCTCTGTGGCAATGTTCCTTCTTATAT	A A	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	372	0.0027	-44	c.430 others(61): Show c.430+7974_430+8017delTAAAGGCCTTCTTAGAGCTCTGTGGCAA TGTTCCTTCTTATATA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KATNIP_chr16_27545144_27785344	27661919	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATACACATAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0003 a0013c0019t0003	a0013c0019t0003g0100 a0013c0019t0003g0100	1	150	0.0067	-44	c.540 others(63): Show c.540+13208_540+13251delTATATATATATATACACATACATATA TATATATATATATATATA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	6/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KATNIP_chr16_27545144_27785344	27661945	TATATATA others(37): Show TATATATATATACACATACATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0067 a0002c0002t0003g0067	1	150	0.0067	-44	c.540 others(63): Show c.540+13214_540+13257delTATATATACACATACATATATATATA TATATATATATACACATA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	6/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KAZN_chr1_14593685_15123043	14681627	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02965.hp2 HG03471.hp2 others(1): Show HG00642.hp2 HG02965.hp2 HG03471.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0003 a0001c0003t0004 a0002c0002t0001 a0001c0001t0003 a0001c0003t0004 a0002c0002t0001	a0001c0001t0003g0005 a0001c0001t0003g0050 a0001c0003t0004g0125 others(1): Show a0001c0001t0003g0005 a0001c0001t0003g0050 a0001c0003t0004g0125 a0002c0002t0001g0124	4	146	0.0274	-44	c.226 others(63): Show c.226+82406_226+82449delATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14681631	ATATATAT others(37): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0063 a0001c0001t0004g0063	1	140	0.0071	-44	c.226 others(63): Show c.226+82410_226+82453delATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KBTBD11_chr8_1968677_2011936	1993482	TATCCGTC others(37): Show TATCCGTCCATCCGTCCATCCATCCATCCATCCATCCACCCATCC	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03942.hp2 HG03491.hp2 HG03492.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0064 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0064	3	388	0.0077	-44	c.-90 others(63): Show c.-908-6798_-908-6755delGTCCATCCGTCCATCCATCCATCCAT CCATCCACCCATCCATCC	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNB2_chr8_72532225_72943349	72725521	ATATATAT others(37): Show ATATATATATATATATATATGTGTGTATATATATATGTATATATG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp2 HG02970.hp2 HG02630.hp2 HG02809.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064	3	153	0.0196	-44	c.579 others(65): Show c.579+157218_579+157261delATATATATATGTGTGTATATATAT ATGTATATATGTATATATAT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNC2_chr12_75035078_75214839	75071925	GAGACTCC others(37): Show GAGACTCCTTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG01891.hp2 others(14): Show HG01243.hp2 HG01884.hp2 HG01891.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG03209.hp2 HG03486.hp1 HG03516.hp1 HG06807.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 a0001c0001 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0020 a0001c0001t0030 a0001c0001t0034 a0001c0004t0005 a0001c0008t0005	a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0077 others(14): Show a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0077 a0001c0001t0001g0106 a0001c0001t0001g0196 a0001c0001t0001g0288 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0005g0004 a0001c0001t0005g0088 a0001c0001t0005g0113 a0001c0001t0020g0300 a0001c0001t0020g0312 a0001c0001t0030g0067 a0001c0001t0034g0313 a0001c0004t0005g0009 a0001c0008t0005g0111	17	314	0.0541	-44	c.688 others(63): Show c.688-20652_688-20609delAACTCTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGAAGGAGTCT	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNG2_chr18_79792938_79905100	79866056	AGGTCTGG others(37): Show AGGTCTGGGTGCTGAGAGGTCTGTGTTCTGAGAGGTCTGTGTTCT	A A	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0272 a0001c0013t0001g0272	1	310	0.0032	-44	c.624 others(61): Show c.624+1767_624+1810delGTCTGGGTGCTGAGAGGTCTGTGTTCTG AGAGGTCTGTGTTCTG	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNH2_chr7_150939961_150983321	150978891	AACACACA others(37): Show AACACACACACACACACACACACACACACACACACACACATACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG06807.hp1 NA18906.hp1 others(1): Show HG03130.hp1 HG06807.hp1 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0002 a0001c0002t0001 a0001c0005t0002	a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0005t0002g0103 others(1): Show a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0005t0002g0103 a0001c0005t0002g0199	4	240	0.0167	-44	c.-10 others(54): Show c.-1022_-979delGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGT	KCNH2	ENSG00000055118.17	transcript	ENST00000262186.10	protein_coding		571		chr7	TogoVar
KCNIP4_chr4_20723606_21953772	21528760	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAAAGGAAGAAAGGAAGAAAGGAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp2 HG03654.hp1 HG02897.hp1 HG02897.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0009 a0001c0002t0001 a0001c0004t0004 a0001c0001t0009 a0001c0002t0001 a0001c0004t0004	a0001c0001t0009g0004 a0001c0002t0001g0009 a0001c0004t0004g0058 a0001c0001t0009g0004 a0001c0002t0001g0009 a0001c0004t0004g0058	3	78	0.0385	-44	c.61+ others(63): Show c.61+419767_61+419810delCCTTTCTTCCTTTCTTCCTTTCTTCC TTTCTTTCTTTCTTTCTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21672321	AACACATC others(37): Show AACACATCTGCTGTGAGACCATGGGAAAATTTCCTGACTTCTGTC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp1 HG03098.hp2 others(2): Show HG02145.hp1 HG02451.hp1 HG03098.hp2 HG03195.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0001 a0001c0002t0005	a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0002t0001g0055 others(2): Show a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0002t0001g0055 a0001c0002t0001g0065 a0001c0002t0005g0062	5	80	0.0625	-44	c.61+ others(63): Show c.61+276206_61+276249delGACAGAAGTCAGGAAATTTTCCCATG GTCTCACAGCAGATGTGT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNJ18_chr17_21687523_21709612	21694568	ACACTCAT others(37): Show ACACTCATCCACCCATCCATCTATCCATCTACCCACCCATCCATC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01517.hp1 HG01517.hp2 others(39): Show HG01167.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG02300.hp1 HG02897.hp1 HG02976.hp2 HG03239.hp1 NA18941.hp1 NA18949.hp2 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18965.hp1 NA18966.hp2 NA18975.hp1 NA18980.hp1 NA18987.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA19006.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19063.hp1 NA19067.hp2 NA19072.hp1 NA19077.hp1 NA19081.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp2	a0002 a0008 a0011 others(1): Show a0002 a0008 a0011 a0012	a0002c0002 a0002c0005 a0002c0008 others(3): Show a0002c0002 a0002c0005 a0002c0008 a0008c0010 a0011c0009 a0012c0007	a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 others(7): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0005t0005 a0002c0005t0006 a0002c0005t0007 a0002c0008t0002 a0008c0010t0009 a0011c0009t0005 a0012c0007t0002	a0002c0002t0002g0003 a0002c0002t0002g0007 a0002c0002t0002g0020 others(25): Show a0002c0002t0002g0003 a0002c0002t0002g0007 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0030 a0002c0002t0003g0004 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0013 a0002c0002t0003g0024 a0002c0002t0003g0029 a0002c0002t0003g0031 a0002c0002t0003g0032 a0002c0002t0008g0023 a0002c0005t0005g0008 a0002c0005t0005g0014 a0002c0005t0005g0034 a0002c0005t0006g0019 a0002c0005t0006g0033 a0002c0005t0007g0035 a0002c0008t0002g0025 a0008c0010t0009g0018 a0011c0009t0005g0008 a0012c0007t0002g0003	42	110	0.3818	-44	c.-17 others(63): Show c.-178-1411_-178-1368delTCATCCACCCATCCATCTATCCATCT ACCCACCCATCCATCCAC	KCNJ18	ENSG00000260458.3	transcript	ENST00000567955.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr17	TogoVar
KCNK9_chr8_139612121_139708123	139677828	AGCTGCAG others(37): Show AGCTGCAGAGTAGTACCTCACATCCCAGCCCAAGGGGTCCCCATG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00544.hp1 others(142): Show HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02647.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03041.hp2 HG03098.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19056.hp2 NA19057.hp2 NA19064.hp1 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(138): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0092 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0294 a0001c0001t0001g0314 a0001c0001t0002g0245 a0001c0001t0002g0267 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0005g0214 a0001c0001t0008g0209 a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0012 a0001c0002t0001g0015 a0001c0002t0001g0020 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0068 a0001c0002t0001g0085 a0001c0002t0001g0093 a0001c0002t0001g0105 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0195 a0001c0002t0001g0204 a0001c0002t0001g0208 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0237 a0001c0002t0001g0239 a0001c0002t0001g0244 a0001c0002t0001g0250 a0001c0002t0001g0256 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0271 a0001c0002t0001g0273 a0001c0002t0001g0277 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0296	145	320	0.4531	-44	c.283 others(63): Show c.283+24838_283+24881delCATGGGGACCCCTTGGGCTGGGATGT GAGGTACTACTCTGCAGC	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNK9_chr8_139612121_139708123	139677838	TAGTACCT others(37): Show TAGTACCTCACATCCCAGCCCAAGGGGTCCCCATGGCTGCAGAGG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02723.hp1 HG02922.hp2 others(2): Show HG01255.hp2 HG02723.hp1 HG02922.hp2 HG03139.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0001t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0313 others(2): Show a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0004g0311 a0001c0002t0001g0310	5	320	0.0156	-44	c.283 others(63): Show c.283+24828_283+24871delCCTCTGCAGCCATGGGGACCCCTTGG GCTGGGATGTGAGGTACT	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNK9_chr8_139612121_139708123	139677920	ACAGAGTA others(37): Show ACAGAGTAATACCTCACATCTCAGCCCAATGAGTCCCTACAGCTG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03486.hp2 HG03098.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0090 a0001c0001t0009g0091 a0001c0001t0001g0090 a0001c0001t0009g0091	2	313	0.0064	-44	c.283 others(63): Show c.283+24746_283+24789delCAGCTGTAGGGACTCATTGGGCTGAG ATGTGAGGTATTACTCTG	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNQ1_chr11_2440008_2854105	2531167	CAGACGTG others(37): Show CAGACGTGCCCTGGGCTCCACATGCCCGTCTGCAGCTCGAGAATT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00597.hp2 others(64): Show HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01192.hp2 HG01433.hp1 HG01891.hp2 HG01943.hp2 HG01993.hp2 HG02015.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG04115.hp2 HG04228.hp1 NA18906.hp2 NA18942.hp2 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18995.hp1 NA19007.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19068.hp1 NA19074.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0008	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004 a0003c0006 a0003c0010 a0006c0013 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0005t0001 a0002c0004t0002 a0003c0006t0001 a0003c0006t0010 a0003c0010t0001 a0006c0013t0002 a0008c0012t0002	a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0040 others(64): Show a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0114 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0002g0066 a0001c0001t0002g0074 a0001c0001t0002g0079 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0129 a0001c0001t0002g0165 a0001c0001t0002g0171 a0001c0001t0003g0052 a0001c0001t0003g0084 a0001c0001t0003g0132 a0001c0001t0003g0151 a0001c0001t0004g0133 a0001c0001t0004g0194 a0001c0001t0005g0004 a0001c0001t0005g0022 a0001c0001t0006g0190 a0001c0001t0006g0204 a0001c0001t0006g0205 a0001c0001t0007g0018 a0001c0001t0007g0199 a0001c0001t0009g0201 a0001c0001t0014g0131 a0001c0001t0015g0028 a0001c0002t0001g0060 a0001c0002t0001g0097 a0001c0002t0001g0176 a0001c0002t0002g0130 a0001c0002t0002g0152 a0001c0002t0002g0158 a0001c0002t0002g0177 a0001c0002t0003g0115 a0001c0003t0001g0089 a0001c0003t0001g0099 a0001c0005t0001g0005 a0001c0005t0001g0162 a0001c0005t0001g0203 a0002c0004t0002g0067 a0002c0004t0002g0070 a0002c0004t0002g0071 a0003c0006t0001g0008 a0003c0006t0010g0012 a0003c0010t0001g0009 a0006c0013t0002g0030 a0008c0012t0002g0173	67	206	0.3252	-44	c.477 others(61): Show c.477+3254_477+3297delCCACATGCCCGTCTGCAGCTCGAGAATT AGACGTGCCCTGGGCT	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ5_chr6_72617064_73203853	72941666	CTCTTTCT others(37): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02622.hp2 HG02723.hp1 others(2): Show HG00438.hp2 HG02622.hp2 HG02723.hp1 NA18959.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0004 a0001c0002t0001 a0001c0002t0023 others(2): Show a0001c0001t0004 a0001c0002t0001 a0001c0002t0023 a0001c0002t0030 a0001c0008t0002	a0001c0001t0004g0020 a0001c0002t0001g0055 a0001c0002t0023g0062 others(2): Show a0001c0001t0004g0020 a0001c0002t0001g0055 a0001c0002t0023g0062 a0001c0002t0030g0059 a0001c0008t0002g0050	5	7	0.7143	-44	c.399 others(63): Show c.399-62200_399-62157delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNT1_chr9_135697185_135800502	135717104	GGGAGGGA others(37): Show GGGAGGGAGGGGACCTGGCCCTGTGGTGTTGGTGTGTATAGGACA	G G	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0265 a0001c0001t0042g0265	1	270	0.0037	-44	c.254 others(61): Show c.254+2427_254+2470delCAGGAGGGAGGGGACCTGGCCCTGTGGT GTTGGTGTGTATAGGA	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCTD16_chr5_144165873_144490686	144299078	GTATATAT others(37): Show GTATATATATATCACTATGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02922.hp1 NA18906.hp2 HG01243.hp2 HG02922.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0029 a0001c0001t0051 a0001c0002t0005 a0001c0001t0029 a0001c0001t0051 a0001c0002t0005	a0001c0001t0029g0150 a0001c0001t0051g0072 a0001c0002t0005g0096 a0001c0001t0029g0150 a0001c0001t0051g0072 a0001c0002t0005g0096	3	109	0.0275	-44	c.832 others(63): Show c.832+91544_832+91587delCACTATGTATATATATATATATATAT ATATATATATATATATAT	KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCTD8_chr4_44168903_44453809	44181220	TTTCCACG others(37): Show TTTCCACGGTCTCCCTCTCCCTCTCTTTCCACGGTCTCCCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02486.hp1 HG02559.hp1 others(8): Show HG01243.hp1 HG02486.hp1 HG02559.hp1 HG02630.hp1 HG02809.hp1 HG02818.hp1 HG03195.hp1 HG03195.hp2 NA18522.hp1 NA19043.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0133 a0001c0001t0002g0141 a0001c0001t0002g0238 others(8): Show a0001c0001t0002g0133 a0001c0001t0002g0141 a0001c0001t0002g0238 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0258 a0001c0001t0002g0259 a0002c0003t0002g0287	11	294	0.0374	-44	c.962 others(61): Show c.962-6014_962-5971delGGAGAGGGAGACCGTGGAAAGAGAGGGA GAGGGAGACCGTGGAA	KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1			chr4	TogoVar
KDM1A_chr1_23014468_23088689	23017177	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	141	0.0071	-44	c.-24 others(55): Show c.-2419_-2376delTATATATATATATATATATATATATATATATATA TATATATATA	KDM1A	ENSG00000004487.18	transcript	ENST00000400181.9	protein_coding		2290		chr1	TogoVar
KDM7A_chr7_140079746_140181983	140100667	TATATATA others(37): Show TATATATATATATACATATATACATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02717.hp2 HG03486.hp1 HG00735.hp1 HG02717.hp2 HG03486.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0006 a0002c0002 a0005c0006	a0002c0002t0005 a0002c0002t0014 a0005c0006t0007 a0002c0002t0005 a0002c0002t0014 a0005c0006t0007	a0002c0002t0005g0278 a0002c0002t0014g0004 a0005c0006t0007g0024 a0002c0002t0005g0278 a0002c0002t0014g0004 a0005c0006t0007g0024	3	342	0.0088	-44	c.163 others(61): Show c.1639-688_1639-645delGTGTATATATATATATATATATGTATAT ATGTATATATATATAT	KDM7A	ENSG00000006459.11	transcript	ENST00000397560.7	protein_coding	12/19			chr7	TogoVar

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